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Rubinstein-Taybi syndrome(RSTS1)

MedGen UID:
48517
Concept ID:
C0035934
Congenital Abnormality
Synonyms: Broad thumb-hallux syndrome; Broad thumbs and great toes, characteristic facies, and mental retardation; CREBBP-Related Rubinstein-Taybi Syndrome; RSTS1; Rubinstein syndrome; RUBINSTEIN-TAYBI SYNDROME 1; RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
Sporadic
MedGen UID:
64410
Concept ID:
C0205422
Temporal Concept
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Rubinstein-Taybi syndrome (45582004)
 
Genes (locations): CREBBP (16p13.3); EP300 (22q13.2)
OMIM®: 180849
Orphanet: ORPHA783

Disease characteristics

Excerpted from the GeneReview: Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and great toes, short stature, and moderate to severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal; however, height, weight, and head circumference percentiles rapidly drop in the first few months of life. Obesity may occur in childhood or adolescence. IQ scores range from 25 to 79; average IQ is between 36 and 51. Other variable findings are coloboma, cataract, congenital heart defects, renal abnormalities, and cryptorchidism. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Cathy A Stevens   view full author information

Additional descriptions

From OMIM
Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006). Floating-Harbor syndrome (136140), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (611421), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi Syndrome Rubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2; 613684) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (602700) on chromosome 22q13 (Bartsch et al., 2010). See also chromosome 16p13.3 deletion syndrome (610543), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.  http://www.omim.org/entry/180849
From GHR
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome. Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a failure to gain weight and grow at the expected rate (failure to thrive) and life-threatening infections. Infants born with this severe form of the disorder usually survive only into early childhood.  http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome

Clinical features

Failure to thrive
MedGen UID:
115900
Concept ID:
C0231246
Sign or Symptom
Slower than normal rate of weight increase.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Postnatal growth retardation
MedGen UID:
355888
Concept ID:
C1865007
Finding
Truncal obesity
MedGen UID:
505025
Concept ID:
CN001770
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Capillary hemangiomas
MedGen UID:
425324
Concept ID:
CN004707
Finding
The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces.
Bifid uterus
MedGen UID:
342474
Concept ID:
C1850327
Finding
Shawl scrotum
MedGen UID:
388088
Concept ID:
C1858539
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Abnormality of the kidney
MedGen UID:
427390
Concept ID:
CN000077
Finding
An abnormality of the kidney.
Papillary cystadenoma of the epididymis
MedGen UID:
429433
Concept ID:
CN008575
Finding
The presence of a papillary cystadenoma of the epididymis.
Abnormal number of teeth
MedGen UID:
220939
Concept ID:
C1290508
Finding
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Low hanging columella
MedGen UID:
344656
Concept ID:
C1856119
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Low posterior hairline
MedGen UID:
355889
Concept ID:
C1865008
Finding
Downslanted palpebral fissures
MedGen UID:
400661
Concept ID:
C1865016
Finding
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Large foramen magnum
MedGen UID:
356700
Concept ID:
C1867128
Finding
Narrow mouth
MedGen UID:
504373
Concept ID:
CN000156
Finding
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Narrow palate
MedGen UID:
504384
Concept ID:
CN000184
Finding
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Delayed cranial suture closure
MedGen UID:
504414
Concept ID:
CN000256
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Facial grimacing
MedGen UID:
504415
Concept ID:
CN000259
Finding
Hypoplasia of the maxilla
MedGen UID:
446348
Concept ID:
CN000307
Finding
Underdevelopment of the Maxilla.
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Convex nasal ridge
MedGen UID:
786052
Concept ID:
CN000415
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
Dental crowding
MedGen UID:
504553
Concept ID:
CN000638
Finding
Overlapping teeth within an alveolar ridge.
Dental malocclusion
MedGen UID:
504556
Concept ID:
CN000647
Finding
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Highly arched eyebrow
MedGen UID:
500931
Concept ID:
CN002318
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Parietal foramina
MedGen UID:
505331
Concept ID:
CN002451
Finding
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Deviated nasal septum
MedGen UID:
505628
Concept ID:
CN003907
Finding
Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
Hypoplasia of dental enamel
MedGen UID:
501010
Concept ID:
CN005491
Finding
Developmental hypoplasia of the dental enamel.
Talon cusp
MedGen UID:
506433
Concept ID:
CN116818
Finding
Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Duane anomaly
MedGen UID:
375895
Concept ID:
C1846464
Finding
Abnormality of the cornea
MedGen UID:
383737
Concept ID:
C1855670
Finding
Chorioretinal dystrophy
MedGen UID:
346626
Concept ID:
C1857627
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Abnormality of refraction
MedGen UID:
427809
Concept ID:
CN000505
Finding
An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
Nasolacrimal duct obstruction
MedGen UID:
504506
Concept ID:
CN000543
Finding
Blockage of the lacrimal duct.
Coloboma
MedGen UID:
504512
Concept ID:
CN000552
Finding
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A decreased magnitude of the sensory perception of sound.
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Poor coordination
MedGen UID:
107874
Concept ID:
C0563243
Finding
Agenesis of corpus callosum
MedGen UID:
373288
Concept ID:
C1837248
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Tethered cord
MedGen UID:
338021
Concept ID:
C1850322
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Self-mutilation
MedGen UID:
378383
Concept ID:
C2242914
Finding
Autism
MedGen UID:
504569
Concept ID:
CN000674
Finding
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
Stereotypic behavior
MedGen UID:
427832
Concept ID:
CN000689
Finding
A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
Delayed speech and language development
MedGen UID:
504583
Concept ID:
CN000706
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Hyperactivity
MedGen UID:
504585
Concept ID:
CN000708
Finding
Agoraphobia
MedGen UID:
504586
Concept ID:
CN000710
Finding
A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.
Bimanual synkinesia
MedGen UID:
428256
Concept ID:
CN001223
Finding
Mirror hand movements.
Phonophobia
MedGen UID:
505146
Concept ID:
CN001979
Finding
An abnormally heightened sensitivity to loud sounds.
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Obstructive sleep apnea
MedGen UID:
505381
Concept ID:
CN002595
Finding
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Impulsivity
MedGen UID:
506520
Concept ID:
CN117601
Finding
Premature thelarche
MedGen UID:
98416
Concept ID:
C0425772
Finding
Isolated breast development prior to the normal age of pubertal onset in females.(NICHD)
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Prominent fingertip pads
MedGen UID:
341243
Concept ID:
C1848512
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Hypoplastic iliac wing
MedGen UID:
350044
Concept ID:
C1861530
Finding
Flared iliac wings
MedGen UID:
356097
Concept ID:
C1865841
Finding
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Large foramen magnum
MedGen UID:
356700
Concept ID:
C1867128
Finding
Polydactyly
MedGen UID:
776570
Concept ID:
C2117329
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Duplication of phalanx of hallux
MedGen UID:
411824
Concept ID:
C2749391
Finding
Delayed cranial suture closure
MedGen UID:
504414
Concept ID:
CN000256
Finding
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Hypoplasia of the maxilla
MedGen UID:
446348
Concept ID:
CN000307
Finding
Underdevelopment of the Maxilla.
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Joint laxity
MedGen UID:
504825
Concept ID:
CN001270
Finding
Lack of stability of a joint.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Parietal foramina
MedGen UID:
505331
Concept ID:
CN002451
Finding
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Dislocated radial head
MedGen UID:
505447
Concept ID:
CN002780
Finding
A dislocation of the head of the radius from its socket in the elbow joint.
Spina bifida occulta
MedGen UID:
505509
Concept ID:
CN002976
Finding
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Abnormality of the cervical spine
MedGen UID:
446484
Concept ID:
CN002993
Finding
Any abnormality of the cervical vertebral column.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Avascular necrosis of the capital femoral epiphysis
MedGen UID:
428180
Concept ID:
CN005076
Finding
Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
Radial deviation of thumb terminal phalanx
MedGen UID:
428582
Concept ID:
CN005195
Finding
Broad hallux
MedGen UID:
506344
Concept ID:
CN008889
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Constipation
MedGen UID:
368096
Concept ID:
C1963087
Finding
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Aganglionic megacolon
MedGen UID:
505171
Concept ID:
CN002042
Finding
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Hirsutism
MedGen UID:
42461
Concept ID:
C0019572
Finding
A disorder characterized by the presence of excessive hair growth in women in anatomic sites where growth is considered to be a secondary male characteristic (beard, moustache, chest, abdomen), where hair growth is under androgen control.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Low anterior hairline
MedGen UID:
331280
Concept ID:
C1842366
Finding
Prominent fingertip pads
MedGen UID:
341243
Concept ID:
C1848512
Finding
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Low posterior hairline
MedGen UID:
355889
Concept ID:
C1865008
Finding
Plantar crease between first and second toes
MedGen UID:
356702
Concept ID:
C1867132
Finding
Single transverse palmar crease
MedGen UID:
362624
Concept ID:
C1873502
Finding
Thick eyebrow
MedGen UID:
500889
Concept ID:
CN000539
Finding
Increased density/number and/or increased diameter of eyebrow hairs.
High axial triradius
MedGen UID:
425026
Concept ID:
CN000977
Finding
Frontal upsweep of hair
MedGen UID:
808106
Concept ID:
CN002028
Finding
Upward and/or sideward growth of anterior hair.
Highly arched eyebrow
MedGen UID:
500931
Concept ID:
CN002318
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Capillary hemangiomas
MedGen UID:
425324
Concept ID:
CN004707
Finding
The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces.
Keloids
MedGen UID:
506384
Concept ID:
CN009391
Finding
Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Pathologic Function
An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat. Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias. . Symptoms of arrhythmias include. -Fast or slow heart beat. -Skipping beats. -Lightheadedness or dizziness. -Chest pain. -Shortness of breath . -Sweating . Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery. . NIH: National Heart, Lung, and Blood Institute.
Ventricular septal defect
MedGen UID:
347827
Concept ID:
C1859213
Finding
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Capillary hemangiomas
MedGen UID:
425324
Concept ID:
CN004707
Finding
The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces.
Vascular ring
MedGen UID:
430064
Concept ID:
CN009601
Finding
A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
Laryngomalacia
MedGen UID:
504867
Concept ID:
CN001457
Finding
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Obstructive sleep apnea
MedGen UID:
505381
Concept ID:
CN002595
Finding
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Respiratory difficulties
MedGen UID:
505386
Concept ID:
CN002605
Finding
Recurrent upper respiratory tract infections
MedGen UID:
500940
Concept ID:
CN002522
Finding
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Keloids
MedGen UID:
506384
Concept ID:
CN009391
Finding
Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair.
Broad thumb
MedGen UID:
140880
Concept ID:
C0426891
Finding
Prominent fingertip pads
MedGen UID:
341243
Concept ID:
C1848512
Finding
Single transverse palmar crease
MedGen UID:
362624
Concept ID:
C1873502
Finding
Polydactyly
MedGen UID:
776570
Concept ID:
C2117329
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Duplication of phalanx of hallux
MedGen UID:
411824
Concept ID:
C2749391
Finding
High axial triradius
MedGen UID:
425026
Concept ID:
CN000977
Finding
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Patellar dislocation
MedGen UID:
505429
Concept ID:
CN002712
Finding
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
Dislocated radial head
MedGen UID:
505447
Concept ID:
CN002780
Finding
A dislocation of the head of the radius from its socket in the elbow joint.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Avascular necrosis of the capital femoral epiphysis
MedGen UID:
428180
Concept ID:
CN005076
Finding
Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
Radial deviation of thumb terminal phalanx
MedGen UID:
428582
Concept ID:
CN005195
Finding
Broad hallux
MedGen UID:
506344
Concept ID:
CN008889
Finding
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.

Recent clinical studies

Etiology

van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJ, Hennekam RC
Br J Dermatol 2014 Sep;171(3):615-21. Epub 2014 Aug 21 doi: 10.1111/bjd.13124. [Epub ahead of print] PMID: 25132000
Beets L, Rodríguez-Fonseca C, Hennekam RC
Am J Med Genet A 2014 Sep;164A(9):2300-9. Epub 2014 Jul 2 doi: 10.1002/ajmg.a.36654. [Epub ahead of print] PMID: 24989455
Bourdeaut F, Miquel C, Richer W, Grill J, Zerah M, Grison C, Pierron G, Amiel J, Krucker C, Radvanyi F, Brugieres L, Delattre O
Pediatr Blood Cancer 2014 Feb;61(2):383-6. Epub 2013 Sep 20 doi: 10.1002/pbc.24765. [Epub ahead of print] PMID: 24115570
Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A
Gene 2013 Apr 15;518(2):476-8. Epub 2013 Jan 23 doi: 10.1016/j.gene.2012.12.105. [Epub ahead of print] PMID: 23352794
Calì F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, Schepis C, Romano V, Romano C
Genet Mol Res 2013 Jan 7;12(3):2809-15. doi: 10.4238/2013.January.7.2. PMID: 23315884

Diagnosis

Yeung HH
J Pediatr Ophthalmol Strabismus 2014 Nov-Dec;51(6):329, 354. doi: 10.3928/01913913-20141021-02. PMID: 25427301
Bedeschi MF, Crippa BL, Colombo L, Guez S, Cerruti M, Fogliani R, Gervasini C, Lalatta F
Am J Med Genet A 2014 Oct;164A(10):2663-6. Epub 2014 Jul 29 doi: 10.1002/ajmg.a.36684. [Epub ahead of print] PMID: 25073882
Marzuillo P, Grandone A, Luongo C, Cantelmi G, Polito C, del Giudice EM, Perrone L
Am J Med Genet A 2014 Aug;164A(8):2129-32. Epub 2014 Apr 24 doi: 10.1002/ajmg.a.36585. [Epub ahead of print] PMID: 24764247
Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H
Neuromolecular Med 2014 Mar;16(1):16-24. Epub 2014 Jan 1 doi: 10.1007/s12017-013-8285-3. [Epub ahead of print] PMID: 24381114Free PMC Article
Kim SR, Kim HJ, Kim YJ, Kwon JY, Kim JW, Kim SH
Ann Clin Lab Sci 2013 Fall;43(4):450-6. PMID: 24247805

Therapy

Smolen P, Baxter DA, Byrne JH
J Theor Biol 2014 Nov 7;360:243-50. Epub 2014 Jul 15 doi: 10.1016/j.jtbi.2014.07.006. [Epub ahead of print] PMID: 25034337Free PMC Article
Morton CM, Bhate C, Janniger CK, Schwartz RA
Cutis 2014 Feb;93(2):83-7. PMID: 24605344
Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H
Neuromolecular Med 2014 Mar;16(1):16-24. Epub 2014 Jan 1 doi: 10.1007/s12017-013-8285-3. [Epub ahead of print] PMID: 24381114Free PMC Article
Shim JH, Greenblatt MB, Singh A, Brady N, Hu D, Drapp R, Ogawa W, Kasuga M, Noda T, Yang SH, Lee SK, Rebel VI, Glimcher LH
J Clin Invest 2012 Jan;122(1):91-106. Epub 2011 Dec 1 doi: 10.1172/JCI59466. [Epub ahead of print] PMID: 22133875Free PMC Article
Hellings JA, Hossain S, Martin JK, Baratang RR
Am J Med Genet 2002 Mar 8;114(2):190-5. PMID: 11857581

Prognosis

Bourdeaut F, Miquel C, Richer W, Grill J, Zerah M, Grison C, Pierron G, Amiel J, Krucker C, Radvanyi F, Brugieres L, Delattre O
Pediatr Blood Cancer 2014 Feb;61(2):383-6. Epub 2013 Sep 20 doi: 10.1002/pbc.24765. [Epub ahead of print] PMID: 24115570
DaCosta J, Brookes J
Eye (Lond) 2012 Sep;26(9):1270-1. Epub 2012 Jun 22 doi: 10.1038/eye.2012.123. [Epub ahead of print] PMID: 22722488Free PMC Article
Caglayan AO, Lechno S, Gumus H, Bartsch O, Fryns JP
Genet Couns 2011;22(4):341-6. PMID: 22303793
Tyrakowski M, Pietrzak S, Przybysz W, Czubak J
Ortop Traumatol Rehabil 2011 Sep-Oct;13(5):511-20. PMID: 22147440
Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U
Am J Med Genet A 2010 Sep;152A(9):2254-61. doi: 10.1002/ajmg.a.33598. PMID: 20684013

Clinical prediction guides

Beets L, Rodríguez-Fonseca C, Hennekam RC
Am J Med Genet A 2014 Sep;164A(9):2300-9. Epub 2014 Jul 2 doi: 10.1002/ajmg.a.36654. [Epub ahead of print] PMID: 24989455
Calì F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, Schepis C, Romano V, Romano C
Genet Mol Res 2013 Jan 7;12(3):2809-15. doi: 10.4238/2013.January.7.2. PMID: 23315884
Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, Sato Y, Kosaki R
Congenit Anom (Kyoto) 2012 Jun;52(2):82-6. doi: 10.1111/j.1741-4520.2012.00356.x. PMID: 22639993
Shim JH, Greenblatt MB, Singh A, Brady N, Hu D, Drapp R, Ogawa W, Kasuga M, Noda T, Yang SH, Lee SK, Rebel VI, Glimcher LH
J Clin Invest 2012 Jan;122(1):91-106. Epub 2011 Dec 1 doi: 10.1172/JCI59466. [Epub ahead of print] PMID: 22133875Free PMC Article
Lopez-Atalaya JP, Gervasini C, Mottadelli F, Spena S, Piccione M, Scarano G, Selicorni A, Barco A, Larizza L
J Med Genet 2012 Jan;49(1):66-74. Epub 2011 Oct 7 doi: 10.1136/jmedgenet-2011-100354. [Epub ahead of print] PMID: 21984751

Recent systematic reviews

Rudenko A, Tsai LH
Neuropharmacology 2014 May;80:70-82. Epub 2014 Feb 1 doi: 10.1016/j.neuropharm.2014.01.043. [Epub ahead of print] PMID: 24495398
Li Z, Liu J, Li H, Peng Y, Lv W, Long Z, Liang D, Wu L
Gene 2013 Dec 1;531(2):502-5. Epub 2013 Sep 12 doi: 10.1016/j.gene.2013.09.006. [Epub ahead of print] PMID: 24035902
Langley B, Gensert JM, Beal MF, Ratan RR
Curr Drug Targets CNS Neurol Disord 2005 Feb;4(1):41-50. PMID: 15723612

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